BRAF V600E Mutation and TMPRSS4 mRNA Level

摘要

BackgroundPapillary thyroid cancer (PTC) is the most common epithelial thyroid tumor, accounting for more than 80% of all thyroid cancers. Though the fine needle aspiration biopsy (FNAB) represents as the golden standard for the diagnostics of thyroid nodules, there is a ～25% risk of indeterminate cytological features.TMPRSS4is a newly found transmembrane serine protease which was overexpressed in papillary thyroid cancer (PTC). AimsThe aim of this study was to determine its potential as a diagnostic marker to improve the diagnostic accuracy of thyroid cancer. MethodsWe used pyrosequencing and quantitative real-time PCR (qRT-PCT) approaches to examineBRAFV600Emutation andTMPRSS4mRNA level in FNAB specimens of thyroid nodules. The detection and analysis were respectively applied to training group with 91, and test group with 88 samples. ResultsWe demonstrated that PTC patients had an increasedTMPRSS4mRNA level as compared with benign subjects. The diagnostic sensitivity, specificity, and accuracy ofTMPRSS4were 93.33, 100, and 96.70%, respectively. Notably, compared withBRAFV600Emutation testing alone, combining withTMPRSS4mRNA level significantly increased the diagnostic sensitivity and accuracy. ConclusionsOur findings indicatedBRAFV600Emutation combination withTMPRSS4mRNA analysis can dramatically improve the sensitivity and accuracy of preoperative diagnosis of thyroid nodules.